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A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome
Marfan syndrome (MFS) is one of the most common hereditary connective tissue diseases, with great individual heterogeneity. We reported a Chinese pregnancy with Clinical diagnosis of MFS, performed whole-exome sequencing, and screened for the genetic abnormality. We also conducted an in vitro mini-g...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788922/ https://www.ncbi.nlm.nih.gov/pubmed/33407909 http://dx.doi.org/10.1186/s41065-020-00170-w |